Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1287231851
rs1287231851
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa
0.010 GeneticVariation BEFREE In another family a variant, p.M96T in the NRL gene was detected; this variant was previously reported as probably causing adRP. 23534816 2013